title: Rett syndrome: presumptive carriers of the gene defect. Sex ratio among their siblings.
abstract: The live-born full siblings of 121 presumptive carriers of Rett syndrome belonging to eight pedigrees were examined as to sex ratio at birth. A total of 394 such siblings born in the period 1757-1966 were identified. 183 (46.4%) of them were male and 211 (53.6%) female, i.e., significantly fewer than in the average Swedish population (p = 0.03) were male. Our findings support the existence of one or more lethal alleles causing Rett syndrome.
authors.affiliation: Department of Psychiatry, Sahlgren University Hospital, Göteborg, Sweden.
authors.forename: H O
authors.initials: HO
authors.lastname: Akesson
authors.forename: B
authors.initials: B
authors.lastname: Hagberg
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
mesh_terms: D016010:Binomial Distribution; D016001:Confidence Intervals; D005260:Female; D005804:Genes, Lethal; D006579:Heterozygote; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000453:epidemiology / Q000235:genetics*; D012744:Sex Ratio; D013548:Sweden / Q000453:epidemiology